Product Details

SNP ID

rs189637126

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:89666941 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCCAGGGGTGGTACTCACCGGCA[C/T]GTAATGCACCACTGTGTCCACCACG

Phenotype

MIM: 611254 MIM: 170290

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KIF7 PubMed Links

Gene Details

Gene

KIF7

Gene Name

kinesin family member 7

There are no transcripts associated with this gene.

Gene

PLIN1

Gene Name

perilipin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145311.1	1385	Missense Mutation	ATG,GTG	M402V	NP_001138783.1
NM_002666.4	1385	Missense Mutation	ATG,GTG	M402V	NP_002657.3
XM_005254934.4	1385	Missense Mutation	ATG,GTG	M402V	XP_005254991.1

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